Abstract

Background/Aims
Several recent epidemiologic studies in familial inflammatory bowel disease (IBD) reported preliminary evidences for genetic anticipation in IBD. However, presence of genetic anticipation in IBD has been questioned. We studied pairs of two-generation first-degree relatives with IBD to identify evidence for genetic anticipation in Korean patients with familial IBD and to know the influence of gender of transmitting parent on anticipation in IBD. Methods: Through retrospective review of the records of 11 parent-child pairs with IBD, we compared age at diagnosis (AAD) and severity of disease between generations and investigate difference in the degree of anticipation with respect to gender of transmitting parent. Results: At the time of study enrollment, the mean age of parents was 56.2 years and 29.1 years in children. Diagnostic intervals (time from first symptoms to diagnosis) between generations were similar (p=0.307). The mean AAD was 21.7 years younger in children than in parents (p<0.001). But, the degree of anticipation was not different according to gender of transmitting parents (p=0.369). Also, severities of disease were not significantly different between generations. Conclusions: Genetic anticipation may exist in Korean patients with familial IBD but, further studies with larger cohorts and sufficient observation time is warranted to rule out the effect of short follow-up time bias. (Intestinal Research 2003;1:31-38)

• Keywords: Anticipation, Genetic, Inflammatory bowel diseases